Researcher

Rubio Gozalbo, M.E.

Persoonlijk hoogleraar, H/MS

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  1. 2019
  2. Published
  3. Published
  4. 2018
  5. Published
  6. Published
  7. Published
  8. Published
  9. Published
  10. Published
    Demirdas, S., van Spronsen, F. J., Hollak, C. E. M., van der Lee, J. H., Bisschop, P. H., Vaz, F. M., ... Bosch, A. M. (2018). Response to the Letter to the Editor Regarding "Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria". Annals of Nutrition and Metabolism, 72(1), 80-81. https://doi.org/10.1159/000486185
  11. Published
  12. 2017
  13. Published
    Falkenberg, K. D., Braverman, N. E., Moser, A. B., Steinberg, S. J., Klouwer, F. C. C., Schluter, A., ... Waterham, H. R. (2017). Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. American Journal of Human Genetics, 101(6), 965-976. https://doi.org/10.1016/j.ajhg.2017.11.007
  14. Published
    van Ginkel, W. G., van Vliet, D., Burgerhof, J. G. M., de Blaauw, P., Gozalbo, M. E. R., Heiner-Fokkema, M. R., & van Spronsen, F. J. (2017). Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1. PLOS ONE, 12(9), [0185342]. https://doi.org/10.1371/journal.pone.0185342
  15. Published
  16. Published
  17. Published
    Jahja, R., van Spronsen, F. J., de Sonneville, L. M. J., van der Meere, J. J., Bosch, A. M., Hollak, C. E. M., ... Huijbregts, S. C. J. (2017). Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study. Behavior Genetics, 47(5), 486-497. https://doi.org/10.1007/s10519-017-9863-1
  18. Published
  19. Published
  20. Published
    Jahja, R., van der Meere, J. J., Legemaat, A. M., Rubio-Gozalbo, M. E., Hofstede, F. C., van der Ploeg, A. T., ... van Spronsen, F. J. (2017). Cognitive Profile and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study. Neuropsychology, 31(4), 437-447. https://doi.org/10.1037/neu0000358
  21. Published
  22. Published
    Welling, L., Bernstein, L. E., Berry, G. T., Burlina, A. B., Eyskens, F., Gautschi, M., ... Galactosemia Network GalNet (2017). International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. Journal of Inherited Metabolic Disease, 40(2), 171-176. https://doi.org/10.1007/s10545-016-9990-5
  23. Published
    Rubio-Gozalbo, M. E., Bosch, A. M., Burlina, A., Berry, G. T., Treacy, E. P., Steering Comm, & Galactosemia Network Representativ (2017). The galactosemia network (GalNet). Journal of Inherited Metabolic Disease, 40(2), 169-170. https://doi.org/10.1007/s10545-016-9989-y
  24. Published
    van Erven, B., Welling, L., van Calcar, S. C., Doulgeraki, A., Eyskens, F., Gribben, J., ... Bosch, A. M. (2017). Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis. JIMD reports, 35, 87-96. https://doi.org/10.1007/8904_2016_28
  25. Published
    Demirdas, S., van Spronsen, F. J., Hollak, C. E. M., van der Lee, J. H., Bisschop, P. H., Vaz, F. M., ... Bosch, A. M. (2017). Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria. Annals of Nutrition and Metabolism, 70(2), 111-121. https://doi.org/10.1159/000465529
  26. 2016
  27. Published
  28. Published
  29. Published
  30. Published
  31. Published
    van Capelle, C. I., van der Meijden, J. C., van den Hout, J. M. P., Jaeken, J., Baethmann, M., Voit, T., ... van der Ploeg, A. T. (2016). Childhood Pompe disease: clinical spectrum and genotype in 31 patients. Orphanet Journal of Rare Diseases, 11, [65]. https://doi.org/10.1186/s13023-016-0442-y
  32. Published
    Jahja, R., van Spronsen, F. J., de Sonneville, L. M. J., van der Meere, J. J., Bosch, A. M., Hollak, C. E. M., ... Huijbregts, S. C. J. (2016). Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study. Journal of Inherited Metabolic Disease, 39(3), 355-362. https://doi.org/10.1007/s10545-016-9918-0
  33. Published
  34. Published
  35. Published
    Stockmann, H., Coss, K. P., Rubio Gozalbo, E., Knerr, I., Fitzgibbon, M., Maratha, A., ... Treacy, E. P. (2016). IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia. In E. Morava, M. Baumgartner, M. Patterson, S. Rahman, J. Zschocke, & V. Peters (Eds.), JIMD Reports (Vol. 27, pp. 47-53). Berlin Heidelberg: Springer. https://doi.org/10.1007/8904_2015_490
  36. 2015
  37. Published
    Chien, Y-H., Abdenur, J. E., Baronio, F., Bannick, A. A., Corrales, F., Couce, M., ... Blom, H. J. (2015). Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes. Orphanet Journal of Rare Diseases, 10, [99]. https://doi.org/10.1186/s13023-015-0321-y
  38. Published
  39. Published
  40. 2014
  41. Published
    Timmers, I., Roebroeck, A., Bastiani, M., Jansma, B. M., Rubio-Gozalbo, M. E., & Zhang, H. (2014). Assessing microstructural substrates of white matter abnormalities using NODDI : application to a metabolic disease. Poster session presented at International Society for Magnetic Resonance in Medicine (ISMRM), .
  42. 2013
  43. Published
  44. Published
  45. Published
    van der Crabben, S. N., Verhoeven-Duif, N. M., Brilstra, E. H., Van Maldergem, L., Coskun, T., Rubio-Gozalbo, E., ... de Koning, T. J. (2013). An update on serine deficiency disorders. Journal of Inherited Metabolic Disease, 36(4), 613-619. https://doi.org/10.1007/s10545-013-9592-4
  46. Published
    Verhagen, J. M. A., Schrander-Stumpel, C. T. R. M., Blezer, M. M. J., Weber, J. W., Schrander, J. J. P., Rubio-Gozalbo, M. E., ... Frints, S. G. M. (2013). Adducted thumbs: A clinical clue to genetic diagnosis. European Journal of Medical Genetics, 56(3), 153-158. https://doi.org/10.1016/j.ejmg.2012.11.004
  47. Published
    Batey, L. A., Welt, C. K., Rohr, F., Wessel, A., Anastasoaie, V., Feldman, H. A., ... Gordon, C. M. (2013). Skeletal health in adult patients with classic galactosemia. Osteoporosis International, 24(2), 501-509. https://doi.org/10.1007/s00198-012-1983-0
  48. 2012
  49. Published
  50. Published
    Waisbren, S. E., Potter, N. L., Gordon, C. M., Green, R. C., Greenstein, P., Gubbels, C. S., ... Berry, G. T. (2012). The adult galactosemic phenotype. Journal of Inherited Metabolic Disease, 32(2), 279-286. https://doi.org/10.1007/s10545-011-9372-y
  51. 2011
  52. Published
  53. Published
  54. Published
    Tabatabaie, L., Klomp, L. W. J., Rubio-Gozalbo, M. E., Spaapen, L. J. M., Haagen, A. A. M., Dorland, L., & de Koning, T. J. (2011). Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency. Journal of Inherited Metabolic Disease, 34(1), 181-184. https://doi.org/10.1007/s10545-010-9249-5
  55. Published
  56. Published
    Waisbren, S. E., Potter, N. L., Gordon, C. M., Green, R. C., Greenstein, P., Gubbels, C. S., ... Berry, G. T. (2011). The adult galactosemic phenotype. 319-320. Abstract from Meeting of the Society for Inherited Metabolic Disorders, .
  57. Published
  58. 2010
  59. Published
  60. Published
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